"Baylor Genetics"[submitter] AND "CHMP1A"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1032086	NM_002768.5(CHMP1A):c.*93G>A	CHMP1A (A222T)	Single nucleotide variant (missense variant +2 more)	Pontocerebellar hypoplasia type 8	GUncertain significance
Select item 1032087	NM_002768.5(CHMP1A):c.277A>G (p.Thr93Ala)	CHMP1A (D86G +1 more)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 8	GUncertain significance
Select item 510863	NM_002768.5(CHMP1A):c.204C>T (p.Arg68=)	CHMP1A (R62C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1028045	NM_002768.5(CHMP1A):c.130T>A (p.Cys44Ser)	CHMP1A (C44S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1028044	NM_002768.5(CHMP1A):c.106-3C>T	CHMP1A	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 8	GUncertain significance
Select item 128732	NM_002768.5(CHMP1A):c.51G>A (p.Lys17=)	CHMP1A (A11T)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2442121	NM_002768.5(CHMP1A):c.28-2A>G	CHMP1A	Single nucleotide variant (splice acceptor variant)	Pontocerebellar hypoplasia type 8	GLikely pathogenic
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic

ClinVar